Canonical Allele Identifier: CA7738977

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90798232G>T , CM000677.2:g.90798232G>T	GRCh38
NC_000015.9:g.91341462G>T , CM000677.1:g.91341462G>T	GRCh37
NC_000015.8:g.89142466G>T	NCBI36
NG_007272.1:g.85861G>T , LRG_20:g.85861G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000057.4:c.3253G>T MANE Select	NP_000048.1:p.Val1085Leu
ENST00000355112.8:c.3253G>T MANE Select	ENSP00000347232.3:p.Val1085Leu
NM_000057.3:c.3253G>T	NP_000048.1:p.Val1085Leu
NM_001287246.1:c.3253G>T	NP_001274175.1:p.Val1085Leu
NM_001287246.2:c.3253G>T	NP_001274175.1:p.Val1085Leu
NM_001287247.1:c.3253G>T	NP_001274176.1:p.Val1085Leu
NM_001287247.2:c.3253G>T	NP_001274176.1:p.Val1085Leu
NM_001287248.1:c.2128G>T	NP_001274177.1:p.Val710Leu
NM_001287248.2:c.2128G>T	NP_001274177.1:p.Val710Leu
ENST00000355112.7:c.3253G>T	ENSP00000347232.3:p.Val1085Leu
ENST00000558825.5:n.600G>T
ENST00000559724.5:c.*2177G>T	ENSP00000453359.1:n.*2177G>T
ENST00000560136.5:n.1279G>T
ENST00000560509.5:c.3253G>T	ENSP00000454158.1:p.Val1085Leu
ENST00000560559.2:n.1826G>T
ENST00000648453.1:c.3253G>T	ENSP00000497646.1:p.Val1085Leu
ENST00000680772.1:c.3253G>T	ENSP00000506117.1:p.Val1085Leu
ENST00000681142.1:c.3253G>T	ENSP00000506682.1:p.Val1085Leu
XM_006720632.2:c.1291G>T	XP_006720695.1:p.Val431Leu
XM_011521881.1:c.1939G>T	XP_011520183.1:p.Val647Leu
XM_011521881.2:c.1939G>T	XP_011520183.1:p.Val647Leu